Susan J. Kimber

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

This study uses hPSCs to model MED with MATN3 mutations, revealing altered matrix organisation and upregulated cholesterol biosynthesis pathway.

Human pluripotent stem cell-derived macrophages modify development of human kidney organoids

This study shows that adding human pluripotent stem cell-derived macrophages to kidney organoids affects their development, increasing glomeruli area but also causing growth inhibition and dysmorphic tissue when added in high numbers.

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons

This study examines epigenome and transcriptome changes in KS1 iPSCs and neuronal differentiation stages, identifying altered H3K4 methylation and gene expression patterns.

A Modular Bioinstructive Platform for Additive-Free, Topography-Driven Stem Cell Differentiation and Patterning

This paper introduces a topography-driven platform for stem cell differentiation without biochemical cues, showing it induces osteogenesis through mechanotransduction and Hedgehog signaling.

Blood Vessels Bioengineered from Induced Pluripotent Stem Cell Derived Mesenchymal Stem Cells and Functional Scaffolds

This study develops bioengineered blood vessels from iPSC-derived cells and silk fibroin-coated scaffolds, showing mechanical and structural properties similar to autologous grafts.

Interaction between gene expression and morphokinetic parameters in undisturbed human embryo culture

This study compares gene expression in human embryos cultured in time-lapse systems versus conventional incubators and identifies molecular mechanisms linking morphokinetic parameters to embryo development.

Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations

This study uses HNF1B mutant kidney organoids to reveal molecular and physiological defects in dysplastic kidney malformations and identify potential therapeutic targets.

Effect of glucose concentration in culture medium on the human preimplantation embryo methylome

This study examines how varying glucose concentrations in culture medium affect the DNA methylome of human preimplantation embryos, finding significant changes in methylation and gene expression.

Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome

The paper quantifies higher order interactions in DNA methylation data from Kabuki syndrome patients and controls, revealing reduced epigenome complexity and novel biological relationships.

Effect of a retinoic acid analogue on BMP-driven pluripotent stem cell chondrogenesis

This study shows that adding TTNPB and timed BMP2 to hPSC differentiation improves chondrogenesis, upregulating genes related to skeletal and cartilage development.

SIRT1 activity orchestrates ECM expression during hESC-chondrogenic differentiation

This study shows that SIRT1 activation increases ECM gene expression but reduces GAG retention during hESC chondrogenesis, suggesting a complex role in cartilage development.

KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.

Directed differentiation of hPSCs through lateral plate mesoderm for generation of articular cartilage progenitors

This study differentiates human pluripotent stem cells through lateral plate mesoderm to generate articular cartilage progenitors and preosteoblasts in a chemically defined protocol.

Optogenetic control of the Bone Morphogenetic Protein signalling pathway through engineered blue light-sensitive receptors

This paper develops an optogenetic system to control BMP signaling using blue light, enabling precise and dynamic activation in human cells.

Trophectoderm differentiation to invasive syncytiotrophoblast is induced by endometrial epithelial cells during human embryo implantation

The paper models human embryo implantation using blastocysts and endometrial epithelial cells, showing EEC-induced syncytiotrophoblast differentiation as the mechanism for embryonic invasion.

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

This study uses patient-derived iPSCs to model Burn-McKeown Syndrome, revealing reduced TXNL4A expression causes splicing defects and impaired neural crest cell differentiation.

Interactome comparison of human embryonic stem cell lines with the inner cell mass and trophectoderm

The paper compares the interactome networks of human embryonic stem cell lines with their tissue of origin, finding limited transcriptome overlap but enriched network properties related to transcriptional activity.